| Field | Specification |
|---|---|
| Mfr No | |
| Alternative Names | Harmonin, Usher syndrome type-1C protein, Autoimmune enteropathy-related antigen AIE-75, Antigen NY-CO-38/NY-CO-37, PDZ-73 protein, Renal carcinoma antigen NY-REN-3, USH1C, AIE75, PDZ73, AIE-75, DFNB18, PDZ-45, NY-CO-37, NY-CO-38, ush1cpst, PDZ-73/NY-CO-38. |
| Cellular Localization | |
| Concentration | |
| Expression System | |
| Form | Sterile Filtered colorless solution. |
| Formulation | |
| Product Type | |
| Protein Length | |
| Protein Size | |
| Purity | |
| Source | Escherichia Coli. |
| Species | |
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| Target |
Recombinant Human Usher Syndrome 1C is supplied as a recombinant protein for in vitro research use.
Background
USH1C gene product Harmonin, is a scaffold protein which functions in the assembly of Usher protein complexes. Harmonin is able to attach to various proteins in cell membranes and coordinate their activities. Harmonin contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. USH1C is expressed in the small intestine, colon, kidney, eye, vestibule of the inner ear and weakly in the pancreas. Mutations in the USH1C gene cause the Usher syndrome type I which is an autosomal recessive sensory defect involving congenital profound sensorineural deafness, vestibular dysfunction, and blindness due to progressive retinitis pigmentosa. Sensorineural deafness is caused by damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The 3 types of the Usher syndrome (1- 3) are distinguished by age at onset and differences in auditory and vestibular function. USH1C gene defects cause of non-syndromic sensorineural deafness autosomal recessive type 18 (DFNB18), is a form of sensorineural hearing loss.
Product format
Provided as a recombinant protein suitable for in vitro workflows such as binding studies, screening, and assay development. Refer to the specifications table for expression format and molecular properties.
What is the purity of Recombinant Human Usher Syndrome 1C (Human)?
What buffer / formulation is this protein supplied in?
How should Recombinant Human Usher Syndrome 1C (Human) be stored?
What expression system was used to produce this protein?
Is this protein approved for clinical or in vitro diagnostic use?
Can I request a custom size, tag variant, or formulation?
Can’t Find What You’re Looking For? We can help you source the best match or customize a recombinant protein solution for your study. Options may include species (human/mouse/rat), protein region/domain (full-length vs fragment), tag or label (His/GST/FLAG/biotin/fluorescent), expression system (E. coli/HEK293/insect), purity grade, formulation (buffer, carrier-free, glycerol-free), activity/functional validation (binding or enzymatic assays), endotoxin level (low-endotoxin for cell-based work), mutants/variants (point mutations, isoforms), and bulk or custom packaging. Click Talk to a Scientist to submit a request form, email us at support@biohippo.com, or explore our Research Services for additional support. Our team will be in contact with you shortly.
